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The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.
Mikhail, Fady M; Burnside, Rachel D; Rush, Brooke; Ibrahim, Jennifer; Godshalk, Robin; Rutledge, S Lane; Robin, Nathaniel H; Descartes, Maria D; Carroll, Andrew J.
Afiliação
  • Mikhail FM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Burnside RD; Laboratory Corporation of America, Research Triangle Park, North Carolina, USA.
  • Rush B; Laboratory Corporation of America, Research Triangle Park, North Carolina, USA.
  • Ibrahim J; Department of Pediatrics, Division of Genetics, St. Joseph's Children's Hospital, Paterson, New Jersey, USA.
  • Godshalk R; Department of Pediatrics, Division of Genetics, St. Joseph's Children's Hospital, Paterson, New Jersey, USA.
  • Rutledge SL; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Descartes MD; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Carroll AJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Genet Med ; 16(1): 92-100, 2014 Jan.
Article em En | MEDLINE | ID: mdl-23765049
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Síndrome de DiGeorge Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Síndrome de DiGeorge Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article